ClinVar Miner

List of variants in gene PHKB reported as pathogenic for disorder of glycogen metabolism

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.1127-2A>G rs535749057 0.00012
NM_000293.3(PHKB):c.1285C>T (p.Arg429Ter) rs563345848 0.00011
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943 0.00008
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter) rs371296953 0.00007
NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter) rs121918021 0.00006
NM_000293.3(PHKB):c.2427+965A>C rs761645932 0.00004
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953 0.00002
NM_000293.3(PHKB):c.2926G>T (p.Glu976Ter) rs199948078 0.00002
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter) rs1273669177 0.00001
NM_000293.3(PHKB):c.2725C>T (p.Gln909Ter) rs748262135 0.00001
NM_000293.3(PHKB):c.306-2A>G rs797044442 0.00001
NM_000293.3(PHKB):c.307C>T (p.Arg103Ter) rs145166656 0.00001
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022 0.00001
NM_000293.3(PHKB):c.522del (p.Val175fs) rs1242540921 0.00001
NC_000016.10:g.(?_47669195)_(47669437_?)del
NC_000016.9:g.(?_47495262)_(47537021_?)del
NC_000016.9:g.(?_47495262)_(47549532_?)del
NC_000016.9:g.(?_47495262)_(47614289_?)del
NC_000016.9:g.(?_47495262)_(47621694_?)del
NC_000016.9:g.(?_47495262)_(47644851_?)del
NC_000016.9:g.(?_47531290)_(47537021_?)del
NC_000016.9:g.(?_47531290)_(47545703_?)del
NC_000016.9:g.(?_47531290)_(47549532_?)del
NC_000016.9:g.(?_47531290)_(47581479_?)del
NC_000016.9:g.(?_47531290)_(47623033_?)del
NC_000016.9:g.(?_47531290)_(47644851_?)del
NC_000016.9:g.(?_47531290)_(47703348_?)del
NC_000016.9:g.(?_47536882)_(47537021_?)del
NC_000016.9:g.(?_47545556)_(47581479_?)del
NC_000016.9:g.(?_47581324)_(47581479_?)del
NC_000016.9:g.(?_47614186)_(47614289_?)del
NC_000016.9:g.(?_47614186)_(47644851_?)del
NC_000016.9:g.(?_47698776)_(47699963_?)del
NC_000016.9:g.(?_47727269)_(47730419_?)del
NM_000293.2(PHKB):c.[2923T>C;2926G>T]
NM_000293.3(PHKB):c.1045_1049dup (p.Lys351fs)
NM_000293.3(PHKB):c.1049dup (p.Tyr350Ter)
NM_000293.3(PHKB):c.1089T>A (p.Cys363Ter)
NM_000293.3(PHKB):c.1126G>T (p.Gly376Ter)
NM_000293.3(PHKB):c.1162_1166dup (p.Gln389fs)
NM_000293.3(PHKB):c.1230T>G (p.Tyr410Ter)
NM_000293.3(PHKB):c.1257T>G (p.Tyr419Ter)
NM_000293.3(PHKB):c.1265del (p.Asn422fs)
NM_000293.3(PHKB):c.1265dup (p.Asn422fs)
NM_000293.3(PHKB):c.126del (p.Asn42fs)
NM_000293.3(PHKB):c.127G>T (p.Glu43Ter)
NM_000293.3(PHKB):c.1320del (p.Leu442fs)
NM_000293.3(PHKB):c.1331del (p.Gly444fs)
NM_000293.3(PHKB):c.1364-2A>G rs1972413438
NM_000293.3(PHKB):c.1555dup (p.Thr519fs)
NM_000293.3(PHKB):c.1622dup (p.Ile543fs)
NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter) rs1292721679
NM_000293.3(PHKB):c.1805_1808dup (p.Gln603fs)
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.1972-2A>G rs964263812
NM_000293.3(PHKB):c.1983_1984del (p.Gly662fs)
NM_000293.3(PHKB):c.2048dup (p.Ser684fs) rs766592623
NM_000293.3(PHKB):c.2332del (p.Leu778fs)
NM_000293.3(PHKB):c.2345_2355del (p.Val782fs)
NM_000293.3(PHKB):c.2424dup (p.Gln809fs)
NM_000293.3(PHKB):c.2427+1045del rs2151739379
NM_000293.3(PHKB):c.2427+996_2427+1000del
NM_000293.3(PHKB):c.2457del (p.Glu820fs) rs1322527832
NM_000293.3(PHKB):c.2554G>T (p.Glu852Ter)
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)
NM_000293.3(PHKB):c.2633G>A (p.Trp878Ter)
NM_000293.3(PHKB):c.2700T>A (p.Tyr900Ter)
NM_000293.3(PHKB):c.2772G>A (p.Trp924Ter)
NM_000293.3(PHKB):c.2817dup (p.Gly940fs)
NM_000293.3(PHKB):c.2830C>T (p.Arg944Ter)
NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)
NM_000293.3(PHKB):c.2884del (p.His962fs)
NM_000293.3(PHKB):c.2896-1G>T
NM_000293.3(PHKB):c.3038del (p.Asn1013fs)
NM_000293.3(PHKB):c.341dup (p.Glu115fs)
NM_000293.3(PHKB):c.369_370del (p.Gly124fs)
NM_000293.3(PHKB):c.409C>T (p.Gln137Ter)
NM_000293.3(PHKB):c.496G>T (p.Glu166Ter)
NM_000293.3(PHKB):c.566del (p.Gly189fs)
NM_000293.3(PHKB):c.570_576delinsAC (p.Gln191fs) rs2151651792
NM_000293.3(PHKB):c.573_577del (p.Gln191fs) rs1233197046
NM_000293.3(PHKB):c.713C>A (p.Ser238Ter)
NM_000293.3(PHKB):c.76+2526_76+2527insGTCTTCCGCTTTC
NM_000293.3(PHKB):c.785G>A (p.Trp262Ter)
NM_000293.3(PHKB):c.80C>G (p.Ser27Ter)
NM_000293.3(PHKB):c.856G>T (p.Glu286Ter)
NM_000293.3(PHKB):c.868_869del (p.Ser289_His290insTer)
NM_000293.3(PHKB):c.93del (p.Ser34fs)
NM_000293.3(PHKB):c.943C>T (p.Gln315Ter)
NM_000293.3:c.(76+1_77-1)_(1068+1_1069-1)del
NM_000293.3:c.(?_-1)_(1068+1_1069-1)del

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